Cellosaurus logo
expasy logo

Cellosaurus GM24206 (CVCL_AY98)

[Text version]
Cell line name GM24206
Accession CVCL_AY98
Resource Identification Initiative To cite this cell line use: GM24206 (RRID:CVCL_AY98)
Comments Population: Native North American.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12496; UBE3A; Simple; p.Thr126Lys (c.377C>A) (p.Thr106Lys, c.317C>A); ClinVar=VCV000155994; Zygosity=Unspecified (Coriell=GM24206).
Disease Angelman syndrome (NCIt: C75462)
Angelman syndrome due to a point mutation (ORDO: Orphanet_411511)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24206
Encyclopedic resources Wikidata; Q54853625
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12